A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658593



Internal ID9924698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11254617..11260170hg38UCSC Ensembl
chr2:11394743..11400296hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385554
hg195554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6007766, essv5672888, essv6221671, essv5403909, essv5944571, essv5567191, essv5456118, essv5815441, essv6209382, essv5794205, essv6394401
SamplesNA19379, NA19315, NA19404, NA19445, NA19921, NA19449, NA19453, NA19257, NA19401, NA19360, NA19346
Known GenesROCK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658593
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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